ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.*3121A>G

gnomAD frequency: 0.04156  dbSNP: rs35827261
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001103843 SCV001260656 benign ANO5-Related Muscle Diseases 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV001779116 SCV002015308 likely benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260137 SCV002539279 benign Gnathodiaphyseal dysplasia 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260139 SCV002539280 benign Miyoshi muscular dystrophy 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260138 SCV002539281 benign Autosomal recessive limb-girdle muscular dystrophy type 2L 2021-12-05 criteria provided, single submitter clinical testing

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